靶标

功能Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function.

组织特异性Widely expressed throughout the body.

疾病相关Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

序列相似性Belongs to the ATXN1 family.Contains 1 AXH domain.

结构域The AXH domain is required for interaction with CIC.

翻译后修饰Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.